Canonical Allele Identifier: CA8584049

Gene: WNK4

Linked Data

• ClinVar Variation Id: 2063117
• ClinVar RCV Id: RCV002948214
• dbSNP Id: rs777042482
• ExAC: 17:40939478 C / T
• gnomAD v2: 17-40939478-C-T
• gnomAD v3: 17-42787460-C-T
• gnomAD v4: 17-42787460-C-T
• COSMIC: COSM4852976 ; COSM4852977
• MyVariant Identifiers: chr17:g.40939478C>T (hg19) ; chr17:g.42787460C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42787460C>T , CM000679.2:g.42787460C>T	GRCh38
NC_000017.10:g.40939478C>T , CM000679.1:g.40939478C>T	GRCh37
NC_000017.9:g.38193004C>T	NCBI36
NG_016227.1:g.11830C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000246914.10:c.1659C>T MANE Select	ENSP00000246914.4:p.Val553=
ENST00000246914.9:c.1659C>T	ENSP00000246914.4:p.Val553=
ENST00000587705.5:n.339C>T
ENST00000591448.5:c.*160C>T	ENSP00000467088.1:n.*160C>T
ENST00000592072.1:n.339C>T
NM_032387.4:c.1659C>T	NP_115763.2:p.Val553=
XM_005257595.3:c.1659C>T	XP_005257652.1:p.Val553=
XM_005257596.2:c.1659C>T	XP_005257653.1:p.Val553=
XM_005257597.3:c.1659C>T	XP_005257654.1:p.Val553=
XM_006722020.2:c.1659C>T	XP_006722083.1:p.Val553=
XM_006722021.1:c.651C>T	XP_006722084.1:p.Val217=
XM_006722022.1:c.651C>T	XP_006722085.1:p.Val217=
XM_011525132.1:c.1659C>T	XP_011523434.1:p.Val553=
XM_011525133.1:c.1659C>T	XP_011523435.1:p.Val553=
XM_011525134.1:c.1659C>T	XP_011523436.1:p.Val553=
XM_011525135.1:c.1659C>T	XP_011523437.1:p.Val553=
NM_001321299.1:c.651C>T	NP_001308228.1:p.Val217=
XM_017024962.1:c.1659C>T	XP_016880451.1:p.Val553=
XM_017024966.1:c.651C>T	XP_016880455.1:p.Val217=
NM_032387.5:c.1659C>T MANE Select	NP_115763.2:p.Val553=
NM_001321299.2:c.651C>T	NP_001308228.1:p.Val217=